Articles with "sequencing population" as a keyword



Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies

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Published in 2025 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6735

Abstract: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child. read more here.

Keywords: whole exome; sequencing population; structural anomalies; population fetuses ... See more keywords